{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:47:53Z","timestamp":1790419673802,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T00:00:00Z","timestamp":1502928000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre\u2010 and post\u2010natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver\u2010Russell syndrome. We report here three patients in two distinct non\u2010Finnish families from North France who were first suspected to have Silver\u2013Russell syndrome which failed to be confirmed on molecular analyses. Clinical features in the three patients led us to also consider the diagnosis of MULIBREY nanism. Sequencing of the <jats:italic>TRIM37<\/jats:italic> gene showed the three patients shared a novel nonsense mutation (c.181 C&gt;T p.Arg61*) in a heterozygous state. Quantitative fluorescent multiplex PCR identified a new deletion of exons 15 and 16 in <jats:italic>TRIM37<\/jats:italic> in one isolated patient and another deletion of exon 9 in two siblings. Breakpoints of both the deletions were localized in <jats:italic>Alu<\/jats:italic> sequences. Given the high number of <jats:italic>Alu<\/jats:italic> repeats, which predispose to gene rearrangements, one should always consider such genetic rearrangements in the molecular diagnosis of non\u2010Finnish MULIBREY nanism patients. Early diagnosis of the disease would prompt careful cardiac follow up of such patients as cardiological complication is a characteristic feature of the MULIBREY nanism as described in this report.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38381","type":"journal-article","created":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T08:14:09Z","timestamp":1502957649000},"page":"2782-2788","source":"Crossref","is-referenced-by-count":13,"title":["New intragenic rearrangements in non\u2010Finnish mulibrey nanism"],"prefix":"10.1002","volume":"173","author":[{"given":"Florence","family":"Jobic","sequence":"first","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique Clinique Centre Hospitalier Universitaire d'Amiens Amiens France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire M\u00e9dicale, EA4666 Centre Hospitalier Universitaire d'Amiens Amiens 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